Anti-Cytosolic 5′-Nucleotidase 1A in the Diagnosis of Patients with Suspected Idiopathic Inflammatory Myopathies: An Italian Real-Life, Single-Centre Retrospective Study

Abstract

Background: Anti-cytosolic 5′-nucleotidase 1A (anti-cN1A) antibodies were proposed as a biomarker for the diagnosis of inclusion body myositis (IBM), but conflicting specificity and sensitivity evidence limits its use. Our study aimed to assess the diagnostic accuracy of anti-cN1A in a cohort of patients who underwent a myositis line immunoassay for suspected idiopathic inflammatory myopathies (IIM). We also assessed the agreement between two testing procedures: line immunoassay (LIA) and enzyme-linked immunoassay (ELISA). Materials and methods: We collected retrospective clinical and serological data for 340 patients who underwent a myositis antibody assay using LIA (EUROLINE Autoimmune Inflammatory Myopathies 16 Ag et cN-1A (IgG) line immunoassay) and verification with an anti-cN1A antibody assay using ELISA (IgG) (Euroimmun Lubeck, Germany). Results: The serum samples of 20 (5.88%) patients (15 females, 5 males, mean age 58.76 ± 18.31) tested positive for anti-cN1A using LIA, but only two out of twenty were diagnosed with IBM. Seventeen out of twenty tested positive for anti-cN1A using ELISA (median IQR, 2.9 (1.9–4.18)). Conclusions: Our study suggests excellent concordance between LIA and ELISA for detecting anti-cN1A antibodies. LIA may be a rapid and useful adjunct, and it could even replace ELISA for cN1A assay. However, the high prevalence of diseases other than IBM in our cohort of anti-cN1A-positive patients did not allow us to consider anti-cN1A antibodies as a specific biomarker for IBM.

On the role of anti-cN1A antibodies in sporadic inclusion body myositis and beyond: a challenging task full of surprises

“…A recent multicentre Italian study comprehensively corroborated such findings [8]. Amongst the 340 samples, 20 (5.9%) tested positive for anti-cN1A; 75% of those were female [8]. Out of those 20, only 2 (10%) were definitely diagnosed with IBM; 6 had other IIMs, 6 had seronegative arthritis, 2 had undifferentiated connective tissue disease, 1 had myasthenia gravis, 1 had interstitial lung disease, 1 was diagnosed with metastatic pancreas carcinoma, and in 1 no definite diagnosis was reached.…”

“…The remaining 4 did not have any rheumatic disease; one had psoriasis and autoimmune thyroiditis, one had muscle weakness of unidentified cause, while two were healthy individuals (one of whom had detectable anti-Ro52 antibodies). A recent multicentre Italian study comprehensively corroborated such findings [8]. Amongst the 340 samples, 20 (5.9%) tested positive for anti-cN1A; 75% of those were female [8].…”